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Table 3 Chromosomal microarray analysis of VSD fetuses with normal karyotyping results

From: Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Case CMA results Size (Mb) Prenatal ultrasound Pathogenicity classification Obstetrical outcomes Inheritance
1 arr[hg19]22q11.21(18,648,855-21,800,471) × 1 3.1 VSD; RAA; vascular circle; ALSA P (DiGeorge syndrome) TP de novo
2 arr[hg19]22q11.21(18,648,855-21,800,471) × 1 3.1 VSD; ARA; PA; thymic hypoplasia P (DiGeorge syndrome) TP de novo
3 arr[hg19]22q11.21(18,631,364-20,729,389) × 1 2.0 VSD; thymic hypoplasia P (DiGeorge syndrome) TP de novo
4 arr[hg19]22q11.21(18,648,855-21,800,471) × 1 3.1 VSD; RAA P (DiGeorge syndrome) TP de novo
5 arr[hg19]22q11.21(18,648,855-21,800,471) × 1 3.1 VSD; ARSA; TR; LSVC; Single umbilical artery P (Cat Eye Syndrome) TP de novo
6 arr[hg19]22q11.1q11.21(16,888,899-18,649,190) × 4 1.7 VSD; ARSA; TR; LSVC; Single umbilical artery P (Cat Eye Syndrome) TP de novo
7 arr[hg19]17p11.2(16,567,623-18,743,354) × 3 2.1 VSD; PA; FGR P (Potocki-Lupski Syndrome) TP de novo
8 arr[hg19]Xp28(152,713,658-153,421,838) × 3 0.69 VSD; TR P TP de novo
9 arr[hg19]3q24q25.1(143,476,996-151,222,561) × 1 7.7 VSD; ocular hypertelorism; widening of lateral ventricle P TP de novo
10 arr[hg19]15q24.1q24.2(72,965,465-75,567,135) × 1 2.6 VSD; PA; FGR; Absence of nasal bone P TP de novo
11 arr[hg19]3q29(195,743,957-197,386,180) × 3 1.6 VSD P TP de novo
12 arr[hg19]7q11.23(72,701,098-74,069,645) × 3 1.3 VSD; Left kidney dysplasia P TP de novo
13 arr[hg19]16q23.2q24.3(79,800,878-90,146,366)hmz,16p13.3p12.3(94,807-19,302,326)hmz 10.3 VSD; PVS; Left kidney dysplasia; FGR P TP UPD
14 arr[hg19]11P15.1P14.3(20,745,930-21,780,075) × 3 1.0 VSD; Right hydronephrosis; widening of left lateral ventricle VOUS TP De novo
15 arr[hg19]4q24(106,284,925-107,545,257) × 3 1.2 VSD; ARSA; FGR VOUS TD De novo
16 arr[hg19]9q21.33q22.1(89,868,507-90,975,015) × 3 1.1 VSD VOUS TD De novo
17 arr[hg19]16p13.11(14,897,401-16,534,031) × 1 0.5 VSD; Left ventricular hyperechoic VOUS TD De novo
18 arr[hg19]2q31.2q31.3(180,558,684-181,901,189) × 3 0.5 VSD; OFB VOUS TD De novo
19 arr[hg19]5q14.1(76,983,283-77,512,158) × 3 0.5 VSD B TD Maternal
20 arr[hg19]10q21.1(59,095,330-60,684,488) × 1 1.5 VSD; TR B TD Maternal
  1. ALSA aberrant left subclavian artery, ARA aortic ride across, ARSA aberrant right subclavian artery, B benign, CMA chromosomal microarray analysis, CNVs copy number variations, FGR fetal growth restriction, LSVC left superior vena cava, OFB oval flaps bulging, P Pathogenic, PA pulmonary atresia, PVS pulmonary valve stenosis, RAA right aortic arch, TR tricuspid regurgitation, TD term delivery, TP termination of pregnancy, UPD uniparental disomy, VOUS variation of uncertain clinical significance, VSD ventricular septal defect, VC vascular circle